| 1. |
- Aring, Eva, 1959, et al.
(författare)
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Ocular motor function in relation to gross motor function in congenital and childhood myotonic dystrophy type 1.
- 2012
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Ingår i: Acta ophthalmologica. - : Wiley. - 1755-3768 .- 1755-375X. ; 90:4, s. 369-374
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Tidskriftsartikel (refereegranskat)abstract
- Abstract. Purpose: To assess ocular motor function in congenital and childhood myotonic dystrophy type 1 (DM1) and correlate the results with cytosine-thymine-guanine (CTG) repeat size, severity of the disease, myotonia and skeletal muscle function. Methods: A cross-sectional investigation into strabismus, versions/ductions, saccades, smooth pursuit movements and ptosis was performed on 49 individuals with a confirmed diagnosis of DM1, all diagnosed at <18 years of age and with >40 CTG expansion repeats. The results were correlated with myotonia as well as Hammersmith motor ability scale (HMA). In addition, the ocular results were compared to results from an age and- sex-matched control group. Results: Ocular motor abnormalities were seen in 82%; the most frequent findings were altered conjugate eye movements and 'pseudoptosis' while blepharoptosis was rare. Strabismus was most common in the severe congenital subgroup, with a frequency 14 times higher than in the control group. Positive correlations were seen between CTG repeat size and affected eyelids, and between myotonia and affected eyelids; both these findings were most prominent in the mild congenital group. CTG repeat size was also correlated with version/duction defects, and most obviously in the childhood group. Low HMA scores were associated with high occurrence of strabismus and version/duction defects. Conclusion: Abnormalities of ocular motor function are frequently present. CTG repeat size correlates positively with altered versions/ductions and eyelid pathology. Gross motor dysfunction correlates with strabismus and defect versions/ductions, and eyelid pathology indicates involvement of myotonia.
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| 2. |
- Ekström, Anne-Berit, 1960, et al.
(författare)
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Autism spectrum conditons in myotonic dystrophy type 1: A study on 57 individuals with congenital and childhood forms
- 2008
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Ingår i: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. - : Wiley. - 1552-4841 .- 1552-485X. ; 147B:6, s. 918-926
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Tidskriftsartikel (refereegranskat)abstract
- Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder, caused by an expansion of a CTG triplet repeat in the DMPK gene. The aims of the present study were to classify a cohort of children with DM1, to describe their neuropsychiatric problems and cognitive level, to estimate the size of the CTG expansion, and to correlate the molecular findings with the neuropsychiatric problems. Fifty-seven children and adolescents (26 females; 31 males) with DM1 (CTG repeats > 40) were included in the study. The following instruments were used: Autism Diagnostic Interview-Revised (ADI-R), 5-15, Griffiths Mental Development Scales, and the Wechsler Scales. Based on age at onset and presenting symptoms, the children were divided into four DM1 groups; severe congenital (n = 19), mild congenital (n = 18), childhood (n = 18), and classical DM1 (n = 2). Forty-nine percent had an autism spectrum disorder (ASD) and autistic disorder was the most common diagnosis present in 35% of the subjects. Eighty-six percent of the individuals with DM1 had mental retardation (MR), most of them moderate or severe MR. ASD was significantly correlated with the DM1 form; the more severe the form of DM1, the higher the frequency of ASD. The frequency of ASD increased with increasing CTG repeat expansions. ASD and/or other neuropsychiatric disorders such as attention deficit hyperactivity disorder, and Tourette's disorder were found in 54% of the total DM1. group. In conclusion, awareness of ASD comorbidity in DM1. is essential. Further studies are warranted to elucidate the molecular etiology causing neurodevelopmental symptoms such as ASD and MR in DM1. (c) 2008 Wiley-Liss, Inc.
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| 3. |
- Ekström, Anne-Berit, 1960, et al.
(författare)
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Cognition and adaptive skills in myotonic dystrophy type 1: a study of 55 individuals with congenital and childhood forms.
- 2009
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Ingår i: Dev Med Child Neurol. - : Wiley. - 1469-8749 .- 0012-1622. ; 51:12, s. 982-90
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Tidskriftsartikel (refereegranskat)abstract
- Aims To investigate cognitive abilities and adaptive skills in children and adolescents with myotonic dystrophy type 1 (DM1) and correlate the findings to the cytosine-thymine-guanine (CTG) repeat expansion size. Method Cognitive level was assessed in 55 children and adolescents with DM1 (31 males, 24 females; mean age 12y 1mo, SD 5y 1mo; range 2y 7mo–21y 5mo) divided into the following categories: severe congenital DM1 (n=19), mild congenital DM1 (n=18), and childhood DM1 (n=18). The Griffiths Mental Developmental Scale, the Wechsler Scales, and the Vineland Adaptive Behavior Scales (VABS) for adaptive skills were used for this purpose. Results Learning disability was found in 95% of the severe congenital group, 83% of the mild congenital group, and 89% of the childhood DM1 group. The more severe the form of DM1, the lower the full-scale IQ (FSIQ; rs=0.28, p=0.044). The individuals with severe congenital and childhood DM1 had a significantly higher verbal IQ than performance IQ (severe congenital: mean difference 5.7, SD 5.7, p=0.008; childhood DM1: mean difference 9.8, SD 18.0, p=0.038). CTG repeat expansion correlated negatively with FSIQ (rs=−0.63, p<0.006). Almost all participants showed poor results on the VABS. There was a positive relationship between cognitive level and adaptive skills in the mild congenital (rs=0.95, p<0.01) and childhood DM1 groups (rs=0.92, p<0.01). Interpretation Children and adolescents with DM1 exhibit significant cognitive and adaptive problems.
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| 4. |
- Ekström, Anne-Berit, 1960
(författare)
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Congenital and Childhood Myotonic Dystrophy type 1 - the impact on central nervous system, visual and motor function
- 2009
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Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- Background and aims: Myotonic dystrophy type 1 (DM1) is an autosomal dominant multisystemic disorder, caused by an expanded CTG repeat on chromosome 19. The disorder can present both in children and adults. The overall purpose of this study was to gain further insight on neuropsychiatric and neurocognitive aspects, vision and motor function in individuals with congenital and childhood DM1. Further to correlate the size of the CTG repeat expansion, inheritance and the onset form with the clinical findings. Methods: Fifty-nine children and adolescents with DM1 were included. Based on age at onset and presenting symptoms, the individuals were divided into four groups; severe and mild congenital, childhood and classical DM1. In study I and IV, the results were compared with healthy age and gender-matched controls. Measurement of muscle strength, motor function and contractures was performed. According to the DSM-IV criteria, neuropsychiatric diagnoses were assigned on the basis of all available information. The intellectual level was assessed using the Griffiths Mental Developmental Scale or the Wechsler Scales, and adaptive skills using the Vineland Adaptive Behaviour Scales. The ophthalmological examination included best corrected visual acuity, refraction, slit-lamp biomicroscopy, indirect ophthalmoscopy and flash visual evoked potentials (VEP). Results: Motor function and muscle strength was significantly reduced in children with DM1 compared with healthy controls, but there was great variation regarding the degree of muscle weakness. Forty-nine percent had an autism spectrum condition (ASC) and autistic disorder was the most common diagnosis, present in 35% of the affected individuals. A large majority of the participants had learning disability, usually in the moderate to severe range. Almost all participants showed poor adaptive skills. The ophthalmological study shows a higher prevalence of low visual acuity and refractive errors compared with the controls. No true cataract was found. Subtle non-specific fundus changes were present in addition to VEP pathology. The frequency of ASC increased with increasing CTG repeat expansions. Motor function, intellectual level, visual acuity and adaptive skills presented lower values in individuals with larger CTG repeat expansion size. Maternal inheritance had a negative impact on intellectual and adaptive functioning. The more severe the form of DM1, the more reduced the motor function and visual acuity, and the higher the frequency of ASC and learning disability. Conclusions: DM1 in childhood shows great variability regarding symptoms and age at onset. At the individual level, the size of the CTG repeat expansion cannot predict the DM1 form. No clear genotype-phenotype correlations were found, although the largest expansions were present in the severe congenital group. In everyday life, it appears that individuals with DM1 primarily suffer from their CNS-related symptoms, such as cognitive deficits, neuropsychiatric problems and visual dysfunctions, rather than their neuromuscular symptoms.
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| 5. |
- Ekström, Anne-Berit, 1960, et al.
(författare)
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Visual function in congenital and childhood myotonic dystrophy type 1.
- 2010
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Ingår i: Ophthalmology. - : Elsevier BV. - 1549-4713 .- 0161-6420. ; 117:5, s. 976-82
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To investigate visual function in a group of individuals with congenital and childhood myotonic dystrophy type 1 (DM1), to correlate the results to the size of the cytosine-thymine-guanine (CTG) repeat expansion and the onset form, and to compare the results with those of a control group. DESIGN: Cross-sectional study with age- and gender-matched control groups. PARTICIPANTS AND CONTROLS: Forty-nine individuals with severe and mild congenital and childhood DM1 and controls matched for age and gender. METHODS: The ophthalmologic examination included best-corrected visual acuity (BCVA), refraction, slit-lamp biomicroscopy, indirect ophthalmoscopy, and flash visual evoked potentials (VEPs). MAIN OUTCOME MEASURES: Visual acuity, refractive error, pathology of lens, fundus, and VEP pathologic features. RESULTS: The study shows a higher prevalence of low visual acuity, hyperopia, and astigmatism in the study population compared with the controls. The size of the CTG repeat expansion had an impact on BCVA in all subgroups with lower values in individuals with larger expansion size. In childhood DM1, individuals with high hyperopia and astigmatism had greater CTG repeat expansion size than those without. No true cataract was found. Subtle nonspecific fundus changes were present in addition to VEP pathology. CONCLUSIONS: Children and adolescents with DM1 have a variety of visual function pathologies, and DM1 has an impact on the developing visual system, necessitating early ophthalmologic assessment and follow-up.
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| 6. |
- Eriksson, Britt-Marie, et al.
(författare)
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Daily activity performance in congenital and childhood forms of myotonic dystrophy type 1: a population-based study
- 2020
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Ingår i: Developmental Medicine and Child Neurology. - : Wiley. - 0012-1622 .- 1469-8749. ; 62:6, s. 723-728
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Tidskriftsartikel (refereegranskat)abstract
- Aims To identify and describe the profile characterizing motor and process skills during daily activity performance in individuals with congenital and childhood forms of myotonic dystrophy type 1 (DM1) and to investigate differences in performance between subgroups. Method Sixty participants (34 males, 26 females, mean age=17y 8mo, SD=6y 0mo, range 5y 8mo-29y 0mo) were divided into severe congenital (n=9), mild congenital (n=20), and childhood (n=31) DM1 subgroups. Daily activity performance was evaluated using a standardized observational instrument: the Assessment of Motor and Process Skills. Results Deficits in performance were more pronounced in process than motor skills. Performance more than 2 SDs below age-specific norms was seen in 65% of participants for process skills and 33% of participants for motor skills. The cut-off scores indicated a potential need for assistance in daily activities for 79% of participants older than 18 years of age (n=28) due to deficient process skills. Interpretation Extensive deficits in daily activity performance were found in congenital and childhood forms of DM1, mainly owing to deficient process skills. Such skills impact on the ability to perform daily activities and could explain dependency in individuals with DM1. Process skills should be considered when evaluating daily activity performance. What this paper adds Young people with myotonic dystrophy type 1 show deficits in motor and process skills when performing daily activities, compared with normative data. Deficits in process skills were more pronounced than deficits in motor skills.
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| 7. |
- Gillenstrand, Jonas, et al.
(författare)
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Behavioural strengths and difficulties in relation to intellectual functions and age in Swedish boys with Duchenne muscular dystrophy
- 2023
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Ingår i: Child Neuropsychology. - : Informa UK Limited. - 0929-7049 .- 1744-4136. ; 29:6, s. 959-972
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Tidskriftsartikel (refereegranskat)abstract
- The aim of this study was to describe behavioral strengths and difficulties in relation to intellectual function and age in boys with DMD. In a cross-sectional design, 70 boys with DMD were tested at 5, 8, 11, and 14 years of age (mean age 10y 5 m). Parental ratings of behavioral strengths and difficulties were studied in relation to age, intellectual function, motor function, and family socioeconomic status (SES). Results show a significant relation between behavioral strengths and difficulties and age with parents rating increasingly more difficulties (slightly higher, higher and very high) from 5 years (11.1%) to 9 years (30.8%) and 11 years (78.9%) of age and then fewer difficulties at 14 years (50%) of age. Working Memory Index (WMI) explained significant variance in SDQ-Total-Score (17.5%) and SDQ-Impact-Score (11.2%). WMI together with upper motor function explained 19.5% variance in SDQ-Hyperactivity and 19.7% in SDQ-Peer-Problems. Age and SES explained an 18.9% variance in SDQ-Emotional-Problems. Age is an important factor when analyzing behavioral strengths and difficulties for boys with DMD. The development of boys with DMD needs to be understood in the context of expected developmental trajectory as well as in the decline of psychical functioning. Our study supports that age, cognition, motor function, and family SES all contribute to how behavioral strengths and difficulties evolves in boys with DMD.
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| 8. |
- Johnson, Nicholas E, et al.
(författare)
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Parent-reported multi-national study of the impact of congenital and childhood onset myotonic dystrophy.
- 2016
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Ingår i: Developmental medicine and child neurology. - : Wiley. - 1469-8749 .- 0012-1622. ; 58:7, s. 698-705
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Tidskriftsartikel (refereegranskat)abstract
- The frequency and impact of symptoms experienced by patients with congenital, childhood, and juvenile-onset myotonic dystrophy (CDM/ChDM/JDM) is not documented. This report identifies symptomatic areas with the greatest disease burden in an international population of patients with early-onset myotonic dystrophy type-1 (DM1).
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| 9. |
- Martensson, A., et al.
(författare)
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Oral hygiene aspects in a study of children and young adults with the congenital and childhood forms of myotonic dystrophy type 1
- 2016
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Ingår i: Clinical and Experimental Dental Research. - : Wiley. - 2057-4347. ; 2:3, s. 179-184
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Tidskriftsartikel (refereegranskat)abstract
- The primary aim was to study the interaction between oral hygiene, oral care, saliva production, and oral motor function in individuals with myotonic dystrophy type 1 (DM1). A secondary aimwas to study how oral hygiene, oral care, and saliva flow rate are affected by gender, age, and subgroup of DM1 in this study population. The study comprised 52 individuals, seven to 29 years of age, divided into two subgroups of DM1, the congenital (N = 24) and childhood-onset forms (N = 28). A combined dental and oral motor examination was performed and the participants or caregivers answered a questionnaire with questions about general health and disabilities, medication, dental care, and oral health. Sixteen individuals with a plaque-, gingivitis-, or calculus-index score of 5-6 were considered to have poor oral hygiene. There were no significant differences between subgroups (age, gender, or form of DM1) in terms of the occurrence of calculus, gingivitis, plaque, or saliva flow rate. The mean value of the unstimulated whole saliva flow rate was 0.7(+/- 0.44) mL/min. An open mouth at rest and oral motor dysfunction were frequent findings. The majority of Swedish children and young adults with the congenital or childhood form of DM1 have fair or poor oral hygiene, with a high occurrence of plaque and gingivitis. As a group, individuals with DM1 and poor oral hygiene have a higher frequency of caries and they report less satisfaction with their oral care at home and the quality of dental care received compared with those with good oral hygiene.
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| 10. |
- Sejersen, Thomas, et al.
(författare)
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Healthcare resource utilisation and direct medical cost for individuals with 5q spinal muscular atrophy in Sweden
- 2024
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Ingår i: EUROPEAN JOURNAL OF HEALTH ECONOMICS. - 1618-7598 .- 1618-7601.
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Tidskriftsartikel (refereegranskat)abstract
- Background Spinal muscular atrophy (SMA) is a rare, progressive, neuromuscular disorder. Recent advances in treatment require an updated assessment of burden to inform reimbursement decisions.Objectives To quantify healthcare resource utilisation (HCRU) and cost of care for patients with SMA.Methods Cohort study of patients with SMA identified in the Swedish National Patient Registry (2007-2018), matched to a reference cohort grouped into four SMA types (1, 2, 3, unspecified adult onset [UAO]). HCRU included inpatient admissions, outpatient visits, procedures, and dispensed medications. Direct medical costs were estimated by multiplying HCRU by respective unit costs. Average annual HCRU and medical costs were modelled for SMA versus reference cohorts to estimate differences attributable to the disease (i.e., average treatment effect estimand). The trajectory of direct costs over time were assessed using synthetic cohorts.Results We identified 290 SMA patients. Annualised HCRU was higher in SMA patients compared with reference cohorts. Highest risk ratios were observed for inpatient overnight stays for type 1 (risk ratio [RR]: 29.2; 95% confidence interval [CI]: 16.0, 53.5) and type 2 (RR: 23.3; 95% CI: 16.4,33.1). Mean annual direct medical costs per patient for each year since first diagnosis were greatest for type 1 (euro114,185 and SMA-attributable: euro113,380), type 2 (euro61,876 and SMA-attributable: euro61,237), type 3 (euro45,518 and SMA-attributable: euro44,556), and UAO (euro4046 and SMA-attributable: euro2098). Costs were greatest in the 2-3 years after the first diagnosis for all types.Discussion and conclusion The economic burden attributable to SMA is significant. Further research is needed to understand the burden in other European countries and the impact of new treatments.
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| 11. |
- Sjögreen, Lotta, 1954, et al.
(författare)
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Orofacial dysfunction in children and adolescents with myotonic dystrophy.
- 2007
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Ingår i: Developmental medicine and child neurology. - 0012-1622. ; 49:1, s. 18-22
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Tidskriftsartikel (refereegranskat)abstract
- Myotonic dystrophy (DM) is a neuromuscular disorder caused by an expansion of a CTG repeat sequence on chromosome 19q13. The aim of the present study was to describe the characteristics and prevalence of oral motor dysfunction in a cohort of children and adolescents with DM and to correlate different aspects of oral motor function with the type of DM and sex. Fifty-six individuals with DM (30 males, 26 females; median age 13y 2mo; range 2y 6mo-21y 5mo) were compared with healthy controls. They were divided into four subgroups: severe congenital DM (n=18); mild congenital DM (n=18); childhood DM (n=18); and classical DM (n=2). A speech-language pathologist assessed different variables of oral motor function, intelligibility, and lip force. The families used a questionnaire to report on eating difficulties and drooling. All individuals with DM had impaired facial expression. Intelligibility was moderately or severely reduced in 30 patients (60%), excluding six patients without speech. Most had a moderate or severe impairment of lip motility (76.0%), tongue motility (52.2%), and lip force (69.2%), causing deviant production of bilabial and dental consonants. The families reported problems with eating (51.9%) and drooling (37.0%). Oral motor dysfunction was most prominent in congenital DM, and males were more affected than females.
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| 12. |
- Stridh, Marie Louise, et al.
(författare)
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Postural control in the congenital and childhood forms of myotonic dystrophy type 1
- 2017
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Ingår i: European Journal of Physiotherapy. - : Informa UK Limited. - 2167-9169 .- 2167-9177. ; 19, s. 24-31
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Tidskriftsartikel (refereegranskat)abstract
- © 2016 Informa UK Limited, trading as Taylor & Francis Group. Aims: To increase knowledge regarding postural control in congenital (CDM1) and childhood (ChDM1) forms of myotonic dystrophy type 1 and to analyze whether variations can be explained by age, joint motion, muscle strength and molecular findings. Methodology: In a cross-sectional study, postural control was measured with the Bruininks-Oseretsky test, sub-test balance, range of motion (ROM) in ankle dorsiflexion and muscle strength in ankle dorsiflexors. Simple linear regression analysis was used to investigate the association between postural control, molecular findings, muscle strength, age and ROM. Major findings: Forty-four individuals participated in the study. All individuals with CDM1 and 80% with ChDM1 had reduced postural control. Simple linear regression analysis shows a negative association between z-BOT2 and CTG repeat expansion (R2=.342, p =.000), a negative association with age (R2=.148, p =.006), a positive association with muscle strength in ankle dorsiflexors (R2=.205, p =.001) and a positive association with ROM in ankle dorsiflexion (R2=.078, p =.037). Principal conclusion: Reduced postural control is common in CDM1 and ChDM1. Size of CTG repeat expansion, muscle strength in ankle dorsiflexors, age and ROM in ankle dorsiflexion all contribute to variations in postural control. These findings provide a better understanding of the disease and contribute to improved health care for the patient group.
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